Article
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.
The Journal of investigative dermatology - 1 Jan 1997
Sviderskaya E V, Bennett D C, Ho L, Bailin T, Lee S T, Spritz R A
Abstract excerpt
Mutations in the P gene of humans and the homologous p-locus of mice, respectively, result in the homologous disorders oculocutaneous albinism type 2 (OCA2) and pink-eyed dilution. Although clearly required for melanin biosynthesis, the specific function of the P gene product, a melanosomal trans...
Topics
- Albinism, Oculocutaneous
- Animals
- Carrier Proteins
- Cell Division
- Cell Line
- DNA, Complementary
- Female
- Genetic Complementation Test
- Genotype
- Humans
- Hypopigmentation
- Male
- Melanocytes
- Membrane Proteins
- Membrane Transport Proteins